M73T (p.Met73Thr) variant of ABCC6 (O95255)
M73T (p.Met73Thr) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M73T (p.Met73Thr) variant details
- p.Met73Thr
- ExAC rs758559224
- gnomAD rs758559224
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.22
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available